St. Luke's Hospital
Located in Chesterfield, MO
Main Number: 314-434-1500
Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Find a Physician Payment Options Locations & Directions
Follow us on: facebook twitter Mobile Email Page Email Page Print Page Print Page Increase Font Size Decrease Font Size Font Size
Meet the Doctor
Spirit of Women
Community Health Needs Assessment
Home > Health Information

Multimedia Encyclopedia


    Aarskog syndrome

    Facial-digital-genital syndrome

    Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.


    Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGD1).


    • Belly button that sticks out
    • Bulge in the groin or scrotum (inguinal hernia)
    • Delayed sexual maturity
    • Delayed teeth
    • Downward palpebral slant to eyes
    • Hairline with a "widow's peak"
    • Mildly sunken chest (pectus excavatum)
    • Mild to moderate mental problems
    • Mild to moderate short height (stature), which may not be obvious until the child is 1 - 3 years old
    • Poorly developed middle section of the face
    • Rounded face
    • "Shawl" scrotum, testicles that have not come down (undescended)
    • Short fingers and toes with mild webbing
    • Single crease in the palm of the hand
    • Small, broad hands and feet with short fingers and curved-in fifth finger
    • Small nose with nostrils tipped forward
    • Top portion of the ear folded over slightly
    • Wide groove above the upper lip, crease below the lower lip
    • Wide-set eyes with droopy eyelids

    Exams and Tests

    • Genetic testing for changes (mutations) in the FGD1 gene
    • X-rays


    Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.

    Support Groups

    The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at

    Outlook (Prognosis)

    Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.

    • Changes in the brain
    • Difficulty growing in the first year of life
    • Poorly aligned teeth
    • Seizures
    • Undescended testicle

    Call your health care provider if your child has delayed growth or if you notice any symptoms of Aarskog syndrome. Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your doctor thinks you or your child may have Aarskog syndrome.


    Genetic testing may be available for persons with a family history of the condition or a known mutation of the gene.


    • The face


    • Simian crease


    • Pectus excavatum


      • The face


      • Simian crease


      • Pectus excavatum


      A Closer Look

        Self Care

          Tests for Aarskog syndrome

            Review Date: 10/29/2013

            Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

            A.D.A.M. content is best viewed in IE9 or above, Fire Fox and chrome browser.

            Back  |  Top
            About Us
            Contact Us
            Locations & Directions
            Quality Reports
            Annual Reports
            Honors & Awards
            Community Health Needs

            Brain & Spine
            Sleep Medicine
            Urgent Care
            Women's Services
            All Services
            Patients & Visitors
            Locations & Directions
            Find a Physician
            Tour St. Luke's
            Patient & Visitor Information
            Contact Us
            Payment Options
            Financial Assistance
            Send a Card
            Mammogram Appointments
            Health Tools
            My Personal Health
            Spirit of Women
            Health Information & Tools
            Clinical Trials
            Employer Programs -
            Passport to Wellness

            Classes & Events
            Classes & Events
            Spirit of Women
            Donate & Volunteer
            Giving Opportunities
            Physicians & Employees
            For Physicians
            Remote Access
            Medical Residency Information
            Pharmacy Residency Information
            Physician CPOE Training
            St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
            Copyright © St. Luke's Hospital Website Terms and Conditions  |  Privacy Policy  |  Notice of Privacy Practices PDF  |  Patient Rights PDF Sitemap St. Luke's Mobile